Varaico: Literature-Extracted Genetic Variants

Gene:PSMB1
Variant:p.I50V

PSMB1

68 papers

RefSeq Summary

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed...

Pfam Domains

Proteasomeaa 34–226UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit beta 1

HGNC Alias Symbols

PMSB1; HC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002793.4
p.I50V
c.148A>G
Surrounding Variants
1 paper
NM_002793.4
p.D47delFs
c.141delA
1 paper
NM_002793.4
p.T55A
c.163A>G
1 paper
NM_002793.4
p.S58N
c.173G>A
1 paper
NM_002793.4
p.G60E
c.179G>A
1 paper
NM_002793.4
p.F61V
c.181T>G
1 paper
NM_002793.4
p.R66Q
c.197G>A
1 paper
NM_002793.4
p.D67Y
c.199G>T
1 paper
NM_002793.4
p.P69P
c.207C>A
1 paper
NM_002793.4
p.G38Splc
c.114-1829A>G
1 paper
NM_002793.4
p.T75I
c.224C>T
1 paper
NM_002793.4
p.K77E
c.229A>G
1 paper
NM_002793.4
p.G84S
c.250G>A
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